Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.
PNPLA6 基因突变与感光细胞退化和各种形式的儿童失明有关
期刊:Nature Communications
影响因子:15.7
doi:10.1038/ncomms6614
Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald I M, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, PÅistoupilová A, HodaÅová K, Piherová L, KuchaÅ L, Baxová A, Chen R, Barsottini O G P, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie J L, Sampson J R, Chinnery P, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso J L, Kretzschmar D, Cayouette M, Koenekoop R K